Exon identity crisis: Disease-causing mutations that disrupt the splicing code

Abstract

Cis-acting RNA elements control the accurate expression of human multi-exon protein coding genes. Single nucleotide variants altering the fidelity of this regulatory code and, consequently, pre-mRNA splicing are expected to contribute to the etiology of numerous human diseases. © 2014 Sterne-Weiler and Sanford; licensee BioMed Central Ltd.